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Socio-professional impact and quality of life of cryopyrin-associated periodic syndromes in 54 patients in adulthood


1, 2, 3, 4, 5

 

  1. Centre Hospitalier Régional Universitaire de Lille, Hôpital Jeanne de Flandre, Lille, France. marina.vasse@gmail.com
  2. Paediatric Rheumatology Department, Centre Hospitalier Régional Universitaire de Lille, France.
  3. Paediatric Rheumatology Department and CEREMAIA, Bicêtre Hospital, APHP and University of Paris Saclay, France.
  4. Centre Hospitalier Universitaire de Necker, APHP, Paediatric Immuno-Haemato-Rheumatology, Paris, Ile de France, France.
  5. Service de Médecine Interne et Immunologie Clinique, Centre de Référence des Maladies Autoimmunes Systémiques Rares du Nord et Nord-Ouest de France (CeRAINO), Université de Lille, Inserm, CHU Lille, U1286 - INFINITE - Institute for Translational Research in Inflammation, Lille, France.

CER16259
2023 Vol.41, N°10
PI 2039, PF 2043
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PMID: 36912350 [PubMed]

Received: 05/10/2022
Accepted : 28/02/2023
In Press: 09/03/2023
Published: 30/10/2023

Abstract

OBJECTIVES:
Cryopyrin-associated periodic syndromes (CAPS) belongs to the group of hereditary recurrent fever disorders characterised by interleukin1β-mediated systemic inflammation. Specific treatment by IL-1 targeting drugs has significantly modified the disease evolution. We aimed to evaluate the socio-professional impact of CAPS in the long term and the influence of genetic variants in the phenotype.
METHODS:
We made a multicentre, observational and descriptive study and collected retrospective data from childhood to adulthood, and until the last year of follow-up. We assessed the quality of life (QoL) of the patients by phone interviews. We also used the SF36 questionnaire including 8 domains: physical function, physical role, body pain, general health, vitality, social function, emotional role and mental health. A high score means a better QoL.
RESULTS:
Fifty-four patients were evaluated (14 familial cold autoinflammatory syndrome, 27 Muckle-Wells syndrome, 7 chronic infantileneurological cutaneous and articular syndrome. The study showed improvement in symptoms in adulthood and good QoL in all domains apart from school (87%) and work (61%) absenteeism. The MWS group is intermediate in terms of symptoms but seems to describe a better QoL compared to the other groups. The genetic variant alone does not determine the expression of the disease.
CONCLUSIONS:
Our study shows that CAPS patients have an improvement of symptoms in adulthood and a satisfactory QoL for most of them. Anti-IL1 treatment is the main factor linked to this improvement and therefore early initiation should be encouraged.

DOI: https://doi.org/10.55563/clinexprheumatol/bfyb6o

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